C1374G (p.Cys1374Gly) variant of FBN1 (Fibrillin-1)
C1374G (p.Cys1374Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan syndrome. The record also includes published literature.
C1374G (p.Cys1374Gly) variant details
- p.Cys1374Gly
- rs2141279837
- ClinGen CA392320311
- ClinVar RCV002226556
- Ensembl rs2141279837
- Pathogenic
- Marfan syndrome
- Missense
- ClinVar: Pathogenic (Marfan syndrome)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)